Author

Deepa Ajay Taranath

Flinders UniversityORCID 0000-0002-6210-744XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:variant calling· 2 Assay:whole-exome sequencing· 2

Frequent Co-Authors

Emmanuelle SouzeauiD· 2 shared Jamie E. CraigiD· 2 shared John Pater· 2 shared Kathryn P. BurdoniD· 2 shared Owen M. SiggsiD· 2 shared Shari Javadiyan· 2 shared Alex William HewittiD· 1 shared Andrew DubowskyiD· 1 shared

Activity by Year

2017-2020 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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2 shared papersGenetics

Emmanuelle SouzeauORCID

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2 papers

Recent·Most cited

GeneticsOphthalmologyPeer-reviewedJan 7, 2020

Congenital glaucoma with anterior segment dysgenesis in individuals with biallelic CPAMD8 variants

Owen M. Siggs, Emmanuelle Souzeau, Deepa Ajay Taranath…·Jamie E. Craig

The paper identifies biallelic CPAMD8 variants as a cause of congenital glaucoma with anterior segment dysgenesis in four individuals from three families.

72 citationstop 2%

humanwhole-exome sequencing

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GeneticsEuropean Journal of Human GeneticsPeer-reviewedMar 8, 2017

Partial duplication of the CRYBB1-CRYBA4 locus is associated with autosomal dominant congenital cataract

Owen M. Siggs, Shari Javadiyan, Shiwani Sharma…·Jamie E. Craig

The paper identifies a partial duplication of the CRYBB1-CRYBA4 locus as a cause of autosomal dominant congenital cataract through copy number variant analysis in a pedigree.

21 citations

humanwhole-exome sequencing

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